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Genetics

  • Open Access
    Five things to know about …: Allopurinol hypersensitivity syndrome
    Wid Yaseen, Bourne Auguste and Jonathan Zipursky
    CMAJ April 03, 2023 195 (13) E483; DOI: https://doi.org/10.1503/cmaj.221575
  • Open Access
    Cases: A young woman with fever and polyserositis caused by familial Mediterranean fever
    Kayla Richard, Sara Glazer, Erkan Demirkaya and Natalya Karp
    CMAJ March 20, 2023 195 (11) E404-E409; DOI: https://doi.org/10.1503/cmaj.220789
  • Open Access
    Access to health care: Ensuring timely genetic diagnosis in adults
    Hanna Faghfoury and Andrea Guerin
    CMAJ March 20, 2023 195 (11) E413-E414; DOI: https://doi.org/10.1503/cmaj.221652
  • Open Access
    Guidance For Policy: Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy
    Holly Longstaff, Jaime Flamenbaum, Etienne Richer, Jeanne Egar, Christopher R. McMaster and Ma’n H. Zawati
    CMAJ November 15, 2022 194 (44) E1500-E1508; DOI: https://doi.org/10.1503/cmaj.212063
  • Open Access
    Sharing genomic data for health research: institutional trust and trustworthiness, and informed consent
    Mackenzie Graham
    CMAJ November 15, 2022 194 (44) E1511-E1512; DOI: https://doi.org/10.1503/cmaj.221500
  • Open Access
    Cases: A challenging diagnosis: hereditary angioedema presenting during pregnancy
    Irene Chair, Gina Lacuesta, Christopher M. Nash and Victoria Cook
    CMAJ September 26, 2022 194 (37) E1283-E1287; DOI: https://doi.org/10.1503/cmaj.220604
  • Open Access
    Clinical Images: Hydatidiform mole in a 39-year-old woman
    Aziz Slaoui, Aicha Kharbach and Aziz Baydada
    CMAJ September 12, 2022 194 (35) E1215; DOI: https://doi.org/10.1503/cmaj.220185
  • Open Access
    Clinical Images: Foramen magnum stenosis in a 5-month-old boy with achondroplasia
    Armaan K. Malhotra, Whitney Parker and Peter B. Dirks
    CMAJ September 06, 2022 194 (34) E1172; DOI: https://doi.org/10.1503/cmaj.220007
  • You have access
    Cases: Sepsis: Unrecognized hemoglobin SC sickle cell disease complicated by sepsis and cholestasis
    Thomas McFarland, David Spillane, Elizaveta Chernetsova and Kaberi Dasgupta
    CMAJ May 02, 2022 194 (17) E608-E611; DOI: https://doi.org/10.1503/cmaj.210981
  • You have access
    Innovations: Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome
    Ryan J. Stubbins, Hannah Cherniawsky, Luke Y.C. Chen and Thomas J. Nevill
    CMAJ April 11, 2022 194 (14) E524-E527; DOI: https://doi.org/10.1503/cmaj.211770

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